Article
NMR structure of the human prion protein with the pathological Q212P mutation reveals unique structural features.
PloS one - 22 Jul 2010
Ilc Gregor, Giachin Gabriele, Jaremko Mariusz, Jaremko Łukasz, Benetti Federico, Plavec Janez, Zhukov Igor, Legname Giuseppe
Abstract excerpt
Prion diseases are fatal neurodegenerative disorders caused by an aberrant accumulation of the misfolded cellular prion protein (PrP(C)) conformer, denoted as infectious scrapie isoform or PrP(Sc). In inherited human prion diseases, mutations in the open reading frame of the PrP gene (PRNP) are hypothesized to favor spontaneous generation of PrP(Sc) in specific brain regions leading to neuronal cell degeneration...
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